Spinocerebellar ataxia type 18

General Information (adopted from Orphanet):

Synonyms, Signs: SENSORIMOTOR NEUROPATHY WITH ATAXIA, AUTOSOMAL DOMINANT
SMNA
SCA18
Number of Symptoms 18
OrphanetNr: 98771
OMIM Id: 607458
ICD-10: G11
UMLs: C1843884
MeSH: C537197
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 26 cases [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Adult
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Autosomal dominant cerebellar ataxia type 1
 -Rare eye disease
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000639) Nystagmus 555 / 7739
2
 (HPO:0001265) Hyporeflexia 208 / 7739
3
 (HPO:0000763) Sensory neuropathy 78 / 7739
4
 (HPO:0001337) Tremor 200 / 7739
5
 (HPO:0007240) Progressive gait ataxia 7 / 7739
6
 (HPO:0003487) Babinski sign 179 / 7739
7
 (HPO:0001284) Areflexia 198 / 7739
8
 (HPO:0002075) Dysdiadochokinesis 40 / 7739
9
 (HPO:0003390) Sensory axonal neuropathy 26 / 7739
10
 (HPO:0001310) Dysmetria 76 / 7739
11
 (HPO:0001761) Pes cavus 225 / 7739
12
 (HPO:0003202) Skeletal muscle atrophy 281 / 7739
13
 (HPO:0003690) Limb muscle weakness 41 / 7739
14
 (OMIM) EMG shows fibrillations and fasiculations 1 / 7739
15
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
16
 (HPO:0001272) Cerebellar atrophy 197 / 7739
17
 (HPO:0003674) Onset 32 / 7739
18
 (OMIM) Nerve conduction velocity studies show axonal sensory neuropathy 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Brkanac et al. (2002) reported a 5-generation American family of Irish ancestry in which 26 members were affected with a unique neurologic disorder with motor and sensory features displaying an autosomal dominant pattern of inheritance. Age of onset ...
Molecular genetics OMIM Brkanac et al. (2009) undertook a comprehensive genomic evaluation of the region of linkage for SMNA, including evaluation for repeat expansion and small deletions or duplications, capillary sequencing of candidate genes, and massively parallel sequencing of all coding ...